MOLECULAR-GENETIC STUDIES OF 2 FAMILIES WITH X-LINKED CHRONIC GRANULOMATOUS-DISEASE - MUTATION ANALYSIS AND DEFINITIVE DETERMINATION OF CARRIER STATUS IN PATIENTS SISTERS

Molecular genetic studies of two families with X-linked chronic granul omatous disease (X-CGD) were performed. The patients showed abnormal p atterns on Southern blot analysis using cytochrome b heavy chain (CYBB ) cDNA as a probe. Both patterns differed and neither has ever been ob served in normal individuals. We applied the results to the diagnosis of the carrier state in the patients' sisters. The results clearly dem onstrated that each patient's sister possessed the same abnormal allel e as the patient's CYBB gene, as detected by Southern analysis. Thus, the results confirm that both of the patients' sisters are carriers of the disease. Further molecular analysis of the patients' mutation rev ealed that they were a point mutation, and a partial deletion of the C YBB gene, respectively. These mutations have not previously been repor ted.